Monogenic hearing loss

Gene: POU1F1

Red List (low evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
#613038:Pituitary hormone deficiency, combined, 1[Short stature (if untreated); Severe growth retardation in infancy; Prominent forehead; Midface hypoplasia; Deep-set eyes; Depressed nasal bridgeShort nose with anteverted nostrils; Macroglossia (untreated hypothyroidism); Open sutures (untreated hypothyroidism)Open fontanelles (untreated hypothyroidism); Jaundice, neonatalMyxedema (untreated hypothyroidism); Hypotonia (untreated hypothyroidism); Hypoplasia of anterior or entire pituitary gland (frequent)Mental retardation (untreated hypothyroidism); Hypothyroidism; Low or absent growth hormone (GH)Low or absent thyroid-stimulating hormone (TSH)Low or absent prolactin (PL); Caused by mutation in the POU domain, class 1, transcription factor 1 gene (POU1F1,)]

Publications

• PMID:10319324
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